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Topic: Bloom syndrome


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In the News (Tue 8 Dec 09)

  
  Bloom syndrome: Encyclopedia of Genetic Disorders
Bloom syndrome is a rare inherited disorder characterized primarily by short stature and a predisposition to various types of cancer.
Bloom syndrome (BS) was first described by D. Bloom in 1954.
The clinical symptoms of BS include small body size, sun-sensitive skin that is prone to a reddish rash, patchy spots on the skin that are either lighter or darker than the expected skin color, severe immune deficiency, and an enormous predisposition to various types of cancer.
health.enotes.com /genetic-disorders-encyclopedia/bloom-syndrome   (140 words)

  
 Bloom syndrome - Wikipedia, the free encyclopedia
Bloom syndrome is a genetic condition characterized by prenatal growth delay and a butterfly rash in the mid-face region.
Bloom syndrome is inherited in an autosomal recessive fashion.
Genetic counseling and genetic testing is recommended for families who may be carriers of Bloom syndrome.
en.wikipedia.org /wiki/Bloom_syndrome   (165 words)

  
 Center for Jewish Genetic Diseases - Department of Human Genetics - Mount Sinai School of Medicine
Bloom’s syndrome is inherited as an autosomal recessive disease.
The diagnosis of Bloom’s syndrome can be confirmed or ruled out by a laboratory test known as a chromosome study, as blood and skin cells show a characteristic pattern of chromosome breakage and rearrangement.
The gene is located on chromosome 15, and one particular mutation in the gene has been identified as the cause of Bloom’s syndrome in the vast majority of Ashkenazi Jews.
www.mssm.edu /jewish_genetics/diseases/bloom.shtml   (405 words)

  
 Bloom syndrome - Genetics Home Reference
Bloom syndrome is an inherited disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes.
Bloom syndrome is a very rare disorder in most populations, and its overall frequency is unknown.
Mutations in the BLM gene cause Bloom syndrome.
ghr.nlm.nih.gov /condition=bloomsyndrome   (772 words)

  
 CIGNA - Bloom Syndrome
Bloom syndrome is of special interest to geneticists because patients with this disorder bear chromosomes that are highly unstable so that mutations are frequently encountered.
Most clinicians engaged in studies of Bloom syndrome consider the volatility of the chromosomes to be a major contributor to both short stature and a predisposition to cancerous growth.
Bloom syndrome is the striking example of this phenomenon and, since the exchange is made visible under certain circumstances, the presence of multiple SCEs may be a diagnostic indicator.
www.cigna.com /healthinfo/nord165.html   (2016 words)

  
 Bloom's Syndrome | www.somethingjewish.co.uk
Infertility is the rule in men with Bloom’s syndrome, and fertility appears to be reduced in women.
Adults with Bloom’s syndrome should be more attentive than others in their surveillance for cancer, maintaining close contact with a physician knowledgeable about the syndrome, and paying particular attention to symptoms that could be early evidence of a treatable precancerous condition.
Although growth hormone therapy has been attempted to increase height in children with Bloom’s syndrome, it does not appear to be effective.
www.somethingjewish.co.uk /articles/363_bloom_s_syndrome.htm   (381 words)

  
 Einstein - Bloom Syndrome
Individuals with Bloom syndrome have short stature, sun-sensitive facial skin lesions, an increased susceptibility to infections and respiratory illness, and an increased predisposition to certain cancers and leukemia.
Bloom syndrome is a rare disease that is most common in the Ashkenazi Jewish population.
Bloom syndrome is considered a "chromosome breakage" disease.
www.einstein.edu /yourhealth/genetic/jewishgenetic/article8411.html   (228 words)

  
 CancerNetwork:   (Site not responding. Last check: 2007-09-21)
loom syndrome is a cancer-prone genetic disorder that is inherited as an autosomal recessive disease.
Clinically, children with Bloom syndrome have small bodies, usually exhibit an erythematous (red skin produced by capillary congestion) "butterfly rash" that is sensitive to sunlight, excessive hyper- and hypopigmented skin lesions located anywhere on the body, and a high rate of bacterial infections due to immunodeficiency.
Cells from Bloom syndrome patients also have a high level of sister chromatid exchanges (reciprocal exchanges between the two chromatids of a chromosome in mitosis).
www.cancernetwork.com /cancergenetics/bloom.htm   (293 words)

  
 Bloom syndrome -- Facts, Info, and Encyclopedia article   (Site not responding. Last check: 2007-09-21)
(additional info and facts about Bloom syndrome) Bloom syndrome is a genetic condition characterized by prenatal growth delay and a butterfly (Any red eruption of the skin) rash in the mid- (The front of the human head from the forehead to the chin and ear to ear) face region.
The most serious characteristics of this condition are a predisposition to (Type genus of the family Cancridae) cancer and (The pathological state resulting from the invasion of the body by pathogenic microorganisms) infections.
Bloom syndrome is (additional info and facts about inherited) inherited in an autosommal (additional info and facts about recessive) recessive fashion.
www.absoluteastronomy.com /encyclopedia/b/bl/bloom_syndrome.htm   (263 words)

  
 BioMed Central | Full text | The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability
Bloom syndrome is a rare cancer-prone disorder in which the cells of affected persons have a high frequency of somatic mutation and genomic instability.
Bloom syndrome (BS) is a rare cancer-prone autosomal recessive disorder characterized by genomic instability, immunodeficiency, infertility and small stature [1,2].
Gharibyan V, Youssoufian H: Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Wemer's syndrome helicase.
www.biomedcentral.com /1471-2121/2/11   (6829 words)

  
 Science News: Gene for rare disease gives cancer clues - blm gene implemented in Bloom's syndrome - Science News of the ...
Although this inherited disease occurs with a scarcely detectable frequency-only 184 cases have been reported worldwide since the syndrome was recognized-scientists have longed to understand how the underlying genetic defect causes the numerous cancers that plague its sufferers and causes them to die, on average, before the age of 21.
Bloom's syndrome was first described in 1954 by dermatologist David Bloom, who noted a characteristic set of manifestations-normal body proportions but very short stature, a sun-sensitive rash on the face reminiscent of lupus, and a small, narrow head.
Bloom's syndrome is a recessive genetic disorder, so only a person who inherits a mutated copy of the gene from each parent suffers the disease.
www.findarticles.com /p/articles/mi_m1200/is_n23_v148/ai_17909362   (681 words)

  
 BBC - h2g2 - Bloom's Syndrome
Interestingly, Bloom’s Syndrome is more common amongst Ashkenazi Jews, where almost 1% of the population is a carrier.
Bloom’s Syndrome is caused by a mutation in the BLM gene, on chromosome 15.
In Bloom’s sufferers, the gene mutations causes the enzyme to be defective, but not completely ineffective (or else the person would never have developed from a zygote!).
www.bbc.co.uk /dna/hub/A1067041   (537 words)

  
 eMedicine - Bloom Syndrome (Congenital Telangiectatic Erythema) : Article by Amir Bajoghli, MD
Immunology: Patients with Bloom syndrome have decreased immunoglobulin A and immunoglobulin M, with recurrent respiratory and gastrointestinal tract infections.
Cockayne syndrome is differentiated by the presence of premature aging, deafness, mental retardation, and retinal degeneration.
Rothmund-Thomson syndrome is differentiated by the early onset of poikiloderma and cataracts.
www.emedicine.com /derm/topic54.htm   (1787 words)

  
 eMedicine - Bloom Syndrome (Congenital Telangiectatic Erythema) : Article Excerpt by: Amir Bajoghli, MD
Background: Bloom syndrome is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types.
In 1989, Nicotera et al suggested that the major biochemical defect in persons with Bloom syndrome is chronic overproduction of the superoxide radical anion.
Men with Bloom syndrome are sterile; women have reduced fertility and a shortened reproductive span.
www.emedicine.com /derm/byname/bloom-syndrome-(congenital-telangiectatic-erythema).htm   (381 words)

  
 Bloom's Syndrome
Bloom's Syndrome is an inherited condition, which means that it is passed from parents to children.
Carriers do not have Bloom's Syndrome but are capable of passing it to their children if the other parent is also a carrier.
Therefore two carriers have a 25% chance of having a child with Bloom Syndrome and 50% chance of having one that is a carrier of the syndrome.
www.mazornet.com /genetics/bloom_syndrome.asp   (557 words)

  
 BLOOM SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders
Bloom syndrome was first described by Dr David Bloom in 1954.
Bloom syndrome is caused by faults in the BLM gene on Chromosome 15q26.1.
A diagnosis of Bloom syndrome can be confirmed or eliminated by a chromosome test in which the characteristic pattern of breakage or rearrangement in the chromosome is identified.
www.cafamily.org.uk /Direct/b22.html   (768 words)

  
 Understanding Bloom Syndrome - Associated Content
Bloom Syndrome is a rare disease that is passed on to children genetically.
Bloom Syndrome is characterized by a delay in growth.
Genetic testing for Bloom Syndrome is a simple process that will typically involve a blood sample that is screened for signs of chromosomal inconsistencies, as well as genetic markers for the disease.
www.associatedcontent.com /article/12370/understanding_bloom_syndrome.html   (520 words)

  
 Bloom Syndrome
It is possible that the main title of the report Bloom Syndrome is not the name you expected.
Some clinicians classify Bloom syndrome as a chromosomal breakage syndrome; that is, a disorder associated with a high frequency of chromosomal breaks and rearrangements.
Bloom syndrome is inherited as an autosomal recessive genetic trait.
my.webmd.com /hw/health_guide_atoz/nord165.asp   (385 words)

  
 Bloom Syndrome - Quest Diagnostics Patient Health Library   (Site not responding. Last check: 2007-09-21)
It is possible that the main title of the report Bloom Syndrome is not the name you expected.
Some clinicians classify Bloom syndrome as a chromosomal breakage syndrome; that is, a disorder associated with a high frequency of chromosomal breaks and rearrangements.
Bloom syndrome is inherited as an autosomal recessive genetic trait.
www.questdiagnostics.com /kbase/nord/nord165.htm   (362 words)

  
 Bloom Syndrome
Bloom Syndrome is a rare inherited disorder characterized by short stature, multiple small dilated blood vessels on the face (facial telangiectasia), increased sensitivity to light (photosensitivity), and susceptibility to infections.
Individuals with Bloom Syndrome may also be exhibit short stature, abnormal sensitivity to sunlight, deficiencies of the immune system, and/or predisposition to neoplasia.
BLOOM SYNDROME: A MENDELIAN PROTOTYPE OF SOMATIC MUTATIONAL DISEASE.
hw.healthdialog.com /kbase/nord/nord165.htm   (1327 words)

  
 bloom Search Results From Healthline
Bloom syndrome is a rare inherited disorder characterized primarily by short stature and a predisposition to various types of.
Some clinicians classify Bloom syndrome as a chromosomal breakage syndrome; that is, a disorder associated with a high frequency of chromosomal breaks and...
Bloom Syndrome (Congenital Telangiectatic Erythema) - Bloom syndrome is a rare autosomal recessive disorder characterized by telangiectases and photosensit...
www.healthline.com /search?q1=bloom   (295 words)

  
 Bloom Syndrome @ DNADirect.com
Bloom syndrome is characterized by growth delay that begins during pregnancy and results in short stature, red sun-sensitive skin lesions on the face, and an increased risk of cancers with earlier than expected ages of onset.
Overall, Bloom syndrome confers a 150-300 times increased risk of cancer as compared to the general population, causing life expectancy to be shortened.
When one parent is a carrier of Bloom syndrome and the other parent is not a carrier, they are not at increased risk to have a child with Bloom syndrome.
genesanddrugs.dnadirect.com /patients/tests/ashkenazi/bloom_syndrome.jsp   (1400 words)

  
 Telomere Shortening Exposes Functions for the Mouse Werner and Bloom Syndrome Genes -- Du et al. 24 (19): 8437 -- ...
and Bloom syndrome are caused by loss-of-function mutations
syndrome and to a lesser degree in Werner syndrome (10, 12).
The Werner syndrome helicase/exonuclease (WRN) disrupts and degrades D-loops in vitro.
mcb.asm.org /cgi/content/full/24/19/8437   (6838 words)

  
 BLM   (Site not responding. Last check: 2007-09-21)
Mutations in the blm gene results in genomic instability that causes Bloom's Syndrome (BS), a rare autosomal recessive genetic disorder characterized by lupus-like erythematous telangiectasias of the face, sun sensitivity, stunted growth infertility and immunodeficiency.
Calin G, Herlea V, Barbanti-Brodano G, and Negrini M. The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors.
Gharibyan V and Youssoufian H. Localization of the bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: Comparison with the werner's syndrome helicase.
www.helicase.net /dexhd/BLM.htm   (1170 words)

  
 6012 - Bloom Syndrome - DNA Analysis
Bloom syndrome is an autosomal recessive disorder characterized clinically by a small size and typical facial appearance, and cytogenetically by an increased rate of chromosome breakage and sister chromatid exchange.
The genomic instability in Bloom syndrome renders patients at a much higher risk for developing multiple types of cancers.
The Bloom syndrome gene BLM on chromosome 15q26.1 encodes a DNA helicase.
www.bcm.edu /geneticlabs/tests/dna/bloom.html   (223 words)

  
 Progeria Information Database: Bloom's Syndrome Genetics   (Site not responding. Last check: 2007-09-21)
Bloom’s Syndrome (BS) was suspected to be a genetic disorder as early as 1963.
In 1969 it was proven to be inherited and autosomal recessive, and in 1994 the BLM gene was mapped to a locus on the 15th chromosome.
The protein is known to be 1417 amino acids long, and a member of the RecQ family of DNA helicases.
instruct1.cit.cornell.edu /courses/bionb720ageless/student2005/ljh34/bloom_genes.htm   (547 words)

  
 Chicago Center for Jewish Genetics Disorders - Ashkenazi Disorders: Bloom Syndrome
Bloom syndrome is a condition which is inherited in a recessive fashion.
The gene responsible in this disorder is involved in the copying and repair of the genetic information in the cells of the body.
By a physician knowledgeable about the symptoms of this disorder, by specialized chromosome testing, or testing of the Bloom syndrome gene.
www.jewishgeneticscenter.org /what/ashkenazi/bloom.asp   (197 words)

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